GRAMD1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	GUncertain significance
Select item 155153	GRCh38/hg38 11q24.1(chr11:123187564-123800140)x3	CLMP, GRAMD1B +29 more	Copy number gain	See cases	GUncertain significance
Select item 151343	GRCh38/hg38 11q24.1(chr11:123486178-123569698)x3	GRAMD1B, LOC130006990 +1 more	Copy number gain	See cases	GLikely benign
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 3102153	NM_001387025.1(GRAMD1B):c.472C>G (p.Arg158Gly)	GRAMD1B (R42G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521514	NM_001387025.1(GRAMD1B):c.575C>G (p.Ser192Cys)	GRAMD1B (S148C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102152	NM_001387025.1(GRAMD1B):c.649G>A (p.Gly217Ser)	GRAMD1B (G101S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056394	NM_001387025.1(GRAMD1B):c.664-8C>T	GRAMD1B	Single nucleotide variant (intron variant)	GRAMD1B-related disorder	GLikely benign
Select item 3056869	NM_001387025.1(GRAMD1B):c.685-4G>A	GRAMD1B	Single nucleotide variant (intron variant)	GRAMD1B-related disorder	GBenign
Select item 996583	NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)	GRAMD1B (R128* +6 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 2241266	NM_001387025.1(GRAMD1B):c.926G>T (p.Arg309Leu)	GRAMD1B (R193L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302560	NM_001387025.1(GRAMD1B):c.1162A>G (p.Met388Val)	GRAMD1B (M205V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535814	NM_001387025.1(GRAMD1B):c.1202T>C (p.Val401Ala)	GRAMD1B (V218A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282578	NM_001387025.1(GRAMD1B):c.1228A>G (p.Ile410Val)	GRAMD1B (I227V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791359	NM_001387025.1(GRAMD1B):c.1245T>A (p.Asp415Glu)	GRAMD1B (D299E +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788878	NM_001387025.1(GRAMD1B):c.1314C>T (p.Ala438=)	GRAMD1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282576	NM_001387025.1(GRAMD1B):c.1352C>T (p.Ala451Val)	GRAMD1B (A335V +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3061028	NM_001387025.1(GRAMD1B):c.1359G>A (p.Glu453=)	GRAMD1B	Single nucleotide variant (synonymous variant)	GRAMD1B-related disorder	GBenign
Select item 2317003	NM_001387025.1(GRAMD1B):c.1363G>T (p.Asp455Tyr)	GRAMD1B (D272Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551304	NM_001387025.1(GRAMD1B):c.1376A>G (p.Glu459Gly)	GRAMD1B (E316G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206466	NM_001387025.1(GRAMD1B):c.1387G>A (p.Ala463Thr)	GRAMD1B (A320T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642483	NM_001387025.1(GRAMD1B):c.1390A>G (p.Ile464Val)	GRAMD1B (I281V +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3042797	NM_001387025.1(GRAMD1B):c.1397A>G (p.Asn466Ser)	GRAMD1B (N283S +6 more)	Single nucleotide variant (missense variant)	GRAMD1B-related disorder	GLikely benign
Select item 2461948	NM_001387025.1(GRAMD1B):c.1457A>G (p.Asn486Ser)	GRAMD1B (N303S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375365	NM_001387025.1(GRAMD1B):c.1465G>A (p.Glu489Lys)	GRAMD1B (E346K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034312	NM_001387025.1(GRAMD1B):c.1519G>A (p.Val507Ile)	GRAMD1B (V324I +6 more)	Single nucleotide variant (missense variant)	GRAMD1B-related disorder	GLikely benign
Select item 3282580	NM_001387025.1(GRAMD1B):c.1613A>G (p.Asn538Ser)	GRAMD1B (N355S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102142	NM_001387025.1(GRAMD1B):c.1628G>A (p.Arg543Gln)	GRAMD1B (R360Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334293	NM_001387025.1(GRAMD1B):c.1630G>A (p.Asp544Asn)	GRAMD1B (D428N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102143	NM_001387025.1(GRAMD1B):c.1648C>T (p.Arg550Cys)	GRAMD1B (R407C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102144	NM_001387025.1(GRAMD1B):c.1649G>A (p.Arg550His)	GRAMD1B (R549H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278975	NM_001387025.1(GRAMD1B):c.1652T>A (p.Phe551Tyr)	GRAMD1B (F368Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481377	NM_001387025.1(GRAMD1B):c.1727C>T (p.Thr576Ile)	GRAMD1B (T433I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034394	NM_001387025.1(GRAMD1B):c.1777-5C>T	GRAMD1B	Single nucleotide variant (intron variant)	GRAMD1B-related disorder	GLikely benign
Select item 3059209	NM_001387025.1(GRAMD1B):c.1854T>C (p.His618=)	GRAMD1B	Single nucleotide variant (synonymous variant)	GRAMD1B-related disorder	GBenign
Select item 3057455	NM_001387025.1(GRAMD1B):c.1919+6G>A	GRAMD1B	Single nucleotide variant (intron variant)	GRAMD1B-related disorder	GLikely benign
Select item 3102145	NM_001387025.1(GRAMD1B):c.1957G>T (p.Gly653Trp)	GRAMD1B (G517W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102146	NM_001387025.1(GRAMD1B):c.2035G>A (p.Ala679Thr)	GRAMD1B (A536T +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534594	NM_001387025.1(GRAMD1B):c.2036C>G (p.Ala679Gly)	GRAMD1B (A563G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102147	NM_001387025.1(GRAMD1B):c.2042C>T (p.Thr681Met)	GRAMD1B (T498M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102148	NM_001387025.1(GRAMD1B):c.2107A>G (p.Thr703Ala)	GRAMD1B (T520A +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388383	NM_001387025.1(GRAMD1B):c.2108C>T (p.Thr703Met)	GRAMD1B (T567M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788572	NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=)	GRAMD1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2214660	NM_001387025.1(GRAMD1B):c.2113C>T (p.Arg705Trp)	GRAMD1B (R562W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102149	NM_001387025.1(GRAMD1B):c.2176G>C (p.Val726Leu)	GRAMD1B (V583L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208384	NM_001387025.1(GRAMD1B):c.2204G>A (p.Gly735Asp)	GRAMD1B (G592D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060986	NM_001387025.1(GRAMD1B):c.2228-9T>C	GRAMD1B	Single nucleotide variant (intron variant)	GRAMD1B-related disorder	GBenign
Select item 2642484	NM_001387025.1(GRAMD1B):c.2241G>A (p.Thr747=)	GRAMD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102150	NM_001387025.1(GRAMD1B):c.2257G>A (p.Asp753Asn)	GRAMD1B (D610N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041089	NM_001387025.1(GRAMD1B):c.2269G>C (p.Gly757Arg)	GRAMD1B (G574R +6 more)	Single nucleotide variant (missense variant)	GRAMD1B-related disorder	GBenign
Select item 3035458	NM_001387025.1(GRAMD1B):c.2286C>T (p.Ser762=)	GRAMD1B	Single nucleotide variant (synonymous variant)	GRAMD1B-related disorder	GLikely benign
Select item 2363210	NM_001387025.1(GRAMD1B):c.2287G>A (p.Val763Met)	GRAMD1B (V580M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338110	NM_001387025.1(GRAMD1B):c.2332G>T (p.Val778Phe)	GRAMD1B (V635F +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282577	NM_001387025.1(GRAMD1B):c.2531T>C (p.Met844Thr)	GRAMD1B (M728T +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041103	NM_001387025.1(GRAMD1B):c.2556G>A (p.Ser852=)	GRAMD1B	Single nucleotide variant (synonymous variant)	GRAMD1B-related disorder	GLikely benign
Select item 3102151	NM_001387025.1(GRAMD1B):c.2566C>T (p.Leu856Phe)	GRAMD1B (L713F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282579	NM_001387025.1(GRAMD1B):c.2587C>G (p.Arg863Gly)	GRAMD1B (R731G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050524	NM_001387025.1(GRAMD1B):c.2597C>G (p.Thr866Arg)	GRAMD1B (T683R +12 more)	Single nucleotide variant (missense variant)	GRAMD1B-related disorder	GLikely benign
Select item 2215856	NM_001387025.1(GRAMD1B):c.2600C>T (p.Ser867Leu)	GRAMD1B (S724L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063202	GRCh37/hg19 11q24.1(chr11:123241505-123459790)x3	GRAMD1B	Copy number gain	not specified	GUncertain significance
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 685528	GRCh37/hg19 11q24.1(chr11:123486666-123516620)x1	GRAMD1B, SCN3B	Copy number loss	not provided	GUncertain significance
Select item 685342	GRCh37/hg19 11q24.1(chr11:123183819-123462008)x3	GRAMD1B	Copy number gain	not provided	GUncertain significance
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic

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